Arteriohepatic dysplasia: radiologic features of a new syndrome.


Journal Article

The radiographic features of five patients with arteriohepatic dysplasia are presented. These patients had congenital intrahepatic cholestasis with elevated serum bile acids, vertebral body abnormalities of shape and/or segmentation, shortened digits, and congenital heart disease, particularly peripheral pulmonic stenosis. They also had dysmorphic facies, eye abnormalities, hypercholesterolemia, and mild fat malabsorption. Some of the patients had neurologic, endocrine, and/or renal abnormalities as well, and they may have had hoarse voices due to vocal cord nodules. Variability in expression of the syndrome and vertical transmission suggest an autosomal dominant pattern of inheritance.

Full Text

Cited Authors

  • Rosenfield, NS; Kelley, MJ; Jensen, PS; Cotlier, E; Rosenfield, AT; Riely, CA

Published Date

  • December 1, 1980

Published In

Volume / Issue

  • 135 / 6

Start / End Page

  • 1217 - 1223

PubMed ID

  • 6779528

Pubmed Central ID

  • 6779528

Electronic International Standard Serial Number (EISSN)

  • 1546-3141

International Standard Serial Number (ISSN)

  • 0361-803X

Digital Object Identifier (DOI)

  • 10.2214/ajr.135.6.1217


  • eng